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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

http://www.wikidata.org/entity/Q30480652

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New vistas on astroglia in convulsive and non-convulsive epilepsy highlight novel astrocytic targets for treatment Immediate Epileptogenesis after Kainate-Induced Status Epilepticus in C57BL/6J Mice: Evidence from Long Term Continuous Video-EEG Telemetry Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.Deletion of phospholipase C beta4 in thalamocortical relay nucleus leads to absence seizures.Enhanced tonic GABAA inhibition in typical absence epilepsy.A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome An epilepsy-related region in the GABA(A) receptor mediates long-distance effects on GABA and benzodiazepine binding sites.Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits.Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA γ2 R43Q mouse model of absence epilepsy.Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy Mutations affecting GABAergic signaling in seizures and epilepsy.Transition to absence seizures and the role of GABA(A) receptors GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors Low blood glucose precipitates spike-and-wave activity in genetically predisposed animals.Long distance effect on ligand-gated ion channels extracellular domain may affect interactions with the intracellular machinery.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.A genetic interaction network model of a complex neurological disease.Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.GABAA receptor trafficking-mediated plasticity of inhibitory synapses.SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy.Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome.Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.Augmented currents of an HCN2 variant in patients with febrile seizure syndromes Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.A roadmap for precision medicine in the epilepsies.Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.Early postnatal switch in GABAA receptor α-subunits in the reticular thalamic nucleus Novel GABRG2 mutations cause familial febrile seizures Multiple molecular mechanisms for a single GABAA mutation in epilepsy.Developmental impact of a familial GABAA receptor epilepsy mutation Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation Genetic complexity of absence seizures in substrains of C3H mice.Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation.Mutations in GABAA receptor subunits associated with genetic epilepsies.Axon initial segment dysfunction in epilepsy.From sleep spindles of natural sleep to spike and wave discharges of typical absence seizures: is the hypothesis still valid?

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P2860

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

http://www.wikidata.org/entity/Q30480652

description

2007 nî lūn-bûn

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2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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type

label

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

@ast

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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prefLabel

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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Proceedings of the National Academy of Sciences of the United States of America

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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

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Alison L Clarke

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Frank N Single

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Heneu O Tan

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P2860

NEURONAL CIRCUITS OF THE NEOCORTEX

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

The 'ABC' of GABA receptors

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

Differential regulation of AMPA receptor and GABA receptor trafficking by tumor necrosis factor-alpha

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors

Receptor trafficking and synaptic plasticity

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